Variant report

Variant	rs73830563
Chromosome Location	chr4:80547179-80547180
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs58138729	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60454622	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830556	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830558	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830561	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830562	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830565	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830572	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830573	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879506	chr4:80316417-80604625	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv879507	chr4:80365765-80552199	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv879508	chr4:80398708-80552199	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1002031	chr4:80459528-80759113	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:80541800-80548600	Enhancers	Rectal Smooth Muscle	rectum
2	chr4:80545000-80547200	Weak transcription	Ovary	ovary
3	chr4:80545000-80551400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr4:80545000-80555400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:80545400-80555200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:80546600-80547200	Enhancers	Fetal Brain Female	brain
7	chr4:80546600-80547800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:80546600-80547800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:80546800-80547200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:80546800-80547200	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr4:80546800-80547200	Enhancers	Fetal Stomach	stomach
12	chr4:80546800-80547400	Flanking Active TSS	Colon Smooth Muscle	Colon
13	chr4:80546800-80547400	Active TSS	Duodenum Mucosa	Duodenum
14	chr4:80546800-80547600	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr4:80546800-80547600	Active TSS	Monocytes-CD14+_RO01746	blood
16	chr4:80546800-80547800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:80547000-80547200	Flanking Active TSS	Fetal Lung	lung
18	chr4:80547000-80547200	Active TSS	Osteobl	bone
19	chr4:80547000-80547400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:80547000-80547400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:80547000-80547400	Active TSS	Stomach Smooth Muscle	stomach
22	chr4:80547000-80547600	Enhancers	Primary B cells from peripheral blood	blood
23	chr4:80547000-80547600	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr4:80547000-80547600	Active TSS	Right Atrium	heart
25	chr4:80547000-80547600	Enhancers	NHEK	skin
26	chr4:80547000-80548400	Enhancers	Fetal Brain Male	brain
27	chr4:80547000-80552800	Weak transcription	K562	blood

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